Canonical Allele Identifier: CA369631213

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655027A>C (hg19) ; chr7:g.142957940A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957940A>C , CM000669.2:g.142957940A>C	GRCh38
NC_000007.13:g.142655027A>C , CM000669.1:g.142655027A>C	GRCh37
NC_000007.12:g.142365149A>C	NCBI36
NG_007492.1:g.9477T>G
NG_007492.2:g.9477T>G
NG_007492.3:g.9477T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.559T>G MANE Select	ENSP00000347409.2:p.Ser187Ala
ENST00000467543.6:c.*411T>G	ENSP00000420011.2:n.*411T>G
ENST00000355265.6:c.559T>G	ENSP00000347409.2:p.Ser187Ala
ENST00000467543.5:c.502T>G	ENSP00000420011.1:p.Ser168Ala
ENST00000476829.5:c.525+364T>G	ENSP00000419889.1:n.525+364T>G
ENST00000479768.6:n.677T>G
ENST00000494148.1:n.158T>G
NM_000420.2:c.559T>G	NP_000411.1:p.Ser187Ala
XM_005249993.2:c.595T>G	XP_005250050.1:p.Ser199Ala
NM_000420.3:c.559T>G MANE Select	NP_000411.1:p.Ser187Ala